Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.

abstract：OBJECTIVE:To investigate the causal relevance of current tobacco smoking for the risk of Parkinson disease (PD). METHODS:We compared the risks of death from PD with smoking habits in 30,000 male doctors in the British Doctors cohort study in 1951 and in survivors who had been resurveyed periodically for 5 decades. Cau...

journal_title：Neurology

authors： Mappin-Kasirer B,Pan H,Lewington S,Kizza J,Gray R,Clarke R,Peto R

更新日期：2020-05-19 00:00:00

abstract：OBJECTIVE:-To determine whether pre-treatment cerebral microbleeds (CMBs) presence and burden are correlated with an increased risk of intracranial hemorrhage (ICH) or poor functional outcome following endovascular thrombectomy (EVT) for acute ischemic stroke (AIS). METHODS:-Consecutive patients treated by EVT for ant...

journal_title：Neurology

authors： Derraz I,Cagnazzo F,Gaillard N,Morganti R,Dargazanli C,Ahmed R,Pierre-Henri L,Riquelme C,Mourand I,Gascou G,Bonafe A,Arquizan C,Costalat V

更新日期：2021-01-25 00:00:00

abstract：:The authors studied the tolerability of subcutaneous interferon beta-1a (IFNbeta-1a) in 51 patients with early-onset multiple sclerosis. The most frequent systemic adverse effects were flu-like symptoms in 65%. Laboratory abnormalities included asymptomatic leukopenia (27%) and elevated hepatic transaminases (35%). Tr...

journal_title：Neurology

authors： Pohl D,Rostasy K,Gärtner J,Hanefeld F

更新日期：2005-03-08 00:00:00

abstract：OBJECTIVE:To measure changes in psychometric state, neural activation, brain volume (BV), and cerebral metabolite concentrations during treatment of minimal hepatic encephalopathy. METHODS:As proof of principle, 22 patients with well-compensated, biopsy-proven cirrhosis of differing etiology and previous minimal hepat...

journal_title：Neurology

authors： McPhail MJ,Leech R,Grover VP,Fitzpatrick JA,Dhanjal NS,Crossey MM,Pflugrad H,Saxby BK,Wesnes K,Dresner MA,Waldman AD,Thomas HC,Taylor-Robinson SD

更新日期：2013-03-12 00:00:00

abstract：:We studied a patient with autopsy-proven Hallervorden-Spatz syndrome (HSS) and the previously unreported finding of high-density lesions in the basal ganglia on CT. The diagnosis of HSS should be considered in a patient with dystonia and basal ganglia mineralization on CT. ...

journal_title：Neurology

authors： Tennison MB,Bouldin TW,Whaley RA

更新日期：1988-01-01 00:00:00

abstract：OBJECTIVE:The aims of this study were to examine executive dysfunction using an antisaccade (AS) task in normal elderly (NE) and patients with mild cognitive impairment (MCI) and Alzheimer disease (AD) as well as to evaluate the relationship between AS performance and cortical thinning within AD-associated regions. ME...

journal_title：Neurology

authors： Heuer HW,Mirsky JB,Kong EL,Dickerson BC,Miller BL,Kramer JH,Boxer AL

更新日期：2013-10-01 00:00:00

abstract：BACKGROUND:According to the International Classification of Headache Disorders (ICHD)-2, primary daily headaches unremitting from onset are classified as new daily-persistent headache (NDPH) only if migraine features are absent. When migraine features are present, classification is problematic. METHODS:We developed a ...

journal_title：Neurology

authors： Robbins MS,Grosberg BM,Napchan U,Crystal SC,Lipton RB

更新日期：2010-04-27 00:00:00

abstract：OBJECTIVE:We determined whether Gram-negative bacterial molecules are associated with Alzheimer disease (AD) neuropathology given that previous studies demonstrate Gram-negative Escherichia coli bacteria can form extracellular amyloid and Gram-negative bacteria have been reported as the predominant bacteria found in no...

journal_title：Neurology

authors： Zhan X,Stamova B,Jin LW,DeCarli C,Phinney B,Sharp FR

更新日期：2016-11-29 00:00:00

abstract：OBJECTIVE:We aimed to investigate whether cognitive deficits and structural and functional connectivity changes can be detected before symptom onset in a large cohort of carriers of microtubule-associated protein tau and progranulin mutations. METHODS:In this case-control study, 75 healthy individuals (aged 20-70 year...

journal_title：Neurology

authors： Dopper EG,Rombouts SA,Jiskoot LC,Heijer Td,de Graaf JR,Koning Id,Hammerschlag AR,Seelaar H,Seeley WW,Veer IM,van Buchem MA,Rizzu P,van Swieten JC

更新日期：2013-02-26 00:00:00

abstract：OBJECTIVE:To quantify the associations of peripapillary retinal nerve fiber layer (pRNFL) thickness and macular ganglion cell layer (mGCL) volume with cognitive functioning and to investigate how demographic and vascular health factors affect these associations in a population-based sample of adults. METHODS:The sampl...

journal_title：Neurology

authors： Ward DD,Mauschitz MM,Bönniger MM,Merten N,Finger RP,Breteler MMB

更新日期：2020-09-01 00:00:00

abstract：:Localization of sign language production and comprehension in deaf people has been described as similar to that of spoken language aphasia. However, sign language employs a visuospatial modality through visual information. We present the first report of a deaf signer who showed substantial sign language aphasia with s...

journal_title：Neurology

authors： Saito K,Otsuki M,Ueno S

更新日期：2007-10-02 00:00:00

abstract：OBJECTIVE:Parkinson disease (PD), a devastating neurodegenerative disorder, affects motor abilities and cognition as well. It is not clear whether the proapoptotic protein, Bid, is involved in tumor necrosis factor death receptor I (TNFRI)-mediated destructive signal transduction pathways such as cell dysfunction or ne...

journal_title：Neurology

authors： Jiang H,He P,Adler CH,Shill H,Beach TG,Li R,Shen Y

更新日期：2012-10-23 00:00:00

abstract：:A wide variety of movement disorders are associated with alcohol abuse. Some idiopathic movement disorders are markedly improved by small amounts of alcohol and this response occasionally may lead to alcoholism. Alcohol abuse alone or combined with hepatic encephalopathy can cause various types of tremor, asterixis, a...

journal_title：Neurology

authors： Neiman J,Lang AE,Fornazzari L,Carlen PL

更新日期：1990-05-01 00:00:00

abstract：:Functional decline for each decade at symptom onset and need for cane, walker, or wheelchair were assessed in 78 biopsy-proved patients with sporadic inclusion body myositis. Patients with disease onset between 40 and 59 years used a walker after 10.2 +/- 5.8 years, whereas those with disease onset between 60 and 79 y...

journal_title：Neurology

authors： Peng A,Koffman BM,Malley JD,Dalakas MC

更新日期：2000-07-25 00:00:00

abstract：:Interferon beta (IFN-beta) has been shown in several clinical trials to have efficacy in MS. Its mechanism of action, however, remains unclear. In this review, several biological activities of IFN-beta are highlighted, including its inhibitory effects on proliferation of leukocytes and antigen presentation. Furthermor...

journal_title：Neurology

authors： Yong VW,Chabot S,Stuve O,Williams G

更新日期：1998-09-01 00:00:00

abstract：:We administered 3 commonly employed tests of mental status (the Information-Memory-Concentration test [IMC], the Mini-Mental State Examination [MMSE], and the Dementia Rating Scale [DRS]) to 92 patients with probable dementia of the Alzheimer type. The 3 tests were readministered to 55 of the patients (2-year subgroup...

journal_title：Neurology

authors： Salmon DP,Thal LJ,Butters N,Heindel WC

更新日期：1990-08-01 00:00:00

abstract：OBJECTIVE:To discuss the indications and timing for resective surgery in patients with Sturge-Weber syndrome (SWS) and medication-resistant epilepsy. BACKGROUND:SWS that causes epilepsy severe enough to merit surgery is rare. Because of the variable natural history of the disease, it is difficult to establish clear-cu...

journal_title：Neurology

authors： Arzimanoglou AA,Andermann F,Aicardi J,Sainte-Rose C,Beaulieu MA,Villemure JG,Olivier A,Rasmussen T

更新日期：2000-11-28 00:00:00

abstract：:Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged...

journal_title：Neurology

authors： Dobkin BH,Verity MA

更新日期：1976-08-01 00:00:00

abstract：OBJECTIVE:To estimate the prevalence of childhood ataxia resulting from both genetic and acquired causes. METHODS:A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) statement. Five databases were searched for articles reporting a frequency measur...

journal_title：Neurology

authors： Musselman KE,Stoyanov CT,Marasigan R,Jenkins ME,Konczak J,Morton SM,Bastian AJ

更新日期：2014-01-07 00:00:00

abstract：OBJECTIVE:We aimed to perform an observational study of age at loss of independent ambulation (LoA) and side-effect profiles associated with different glucocorticoid corticosteroid (GC) regimens in Duchenne muscular dystrophy (DMD). METHODS:We studied 340 participants in the Cooperative International Neuromuscular Res...

journal_title：Neurology

authors： Bello L,Gordish-Dressman H,Morgenroth LP,Henricson EK,Duong T,Hoffman EP,Cnaan A,McDonald CM,CINRG Investigators.

更新日期：2015-09-22 00:00:00

abstract：OBJECTIVE:Kennedy disease (KD), or spinobulbomuscular atrophy, is a slowly progressive inherited neurodegenerative disorder, marked by prominent fasciculations that typically precede the development of other symptoms. Although the genetic basis of KD relates to triplet (CAG) repeat expansion in the androgen receptor (A...

journal_title：Neurology

authors： Vucic S,Kiernan MC

更新日期：2007-11-06 00:00:00

abstract：OBJECTIVE:To examine nonmotor outcomes and correlates of quality of life (QoL) 3 and 12 months after unilateral focused ultrasound thalamotomy in tremor-dominant Parkinson disease (TDPD). METHODS:Twenty-seven patients with TDPD in a double-blind, sham-controlled, randomized clinical trial underwent comprehensive neuro...

journal_title：Neurology

authors： Sperling SA,Shah BB,Barrett MJ,Bond AE,Huss DS,Gonzalez Mejia JA,Elias WJ

更新日期：2018-10-02 00:00:00

abstract：OBJECTIVE:To evaluate the effectiveness of opicapone as add-on to levodopa and the effects of switching from entacapone over 1 year of treatment in patients with fluctuating Parkinson disease. METHODS:After completion of a placebo- and entacapone-controlled double-blind study of opicapone (5, 25, or 50 mg), 495 patien...

journal_title：Neurology

authors： Ferreira JJ,Lees AJ,Poewe W,Rascol O,Rocha JF,Keller B,Soares-da-Silva P

更新日期：2018-05-22 00:00:00

abstract：:Alzheimer disease (AD) has a significant impact on caregivers. Administering and managing medications is one of their many daily tasks. More effective modes of drug administration may benefit patient and caregiver, and may improve compliance. A prospective outcome of the IDEAL (Investigation of TransDermal Exelon in A...

journal_title：Neurology

authors： Blesa R,Ballard C,Orgogozo JM,Lane R,Thomas SK

更新日期：2007-07-24 00:00:00

abstract：:Manipulation of afferent inputs may temporarily modulate dystonic spasms. Ten patients with writer's cramp were enrolled in a double-blind, randomized, crossover study in which the effects of transcutaneous electrical stimulation (TENS) and placebo treatment were compared. Patients were evaluated using four measures o...

journal_title：Neurology

authors： Tinazzi M,Farina S,Bhatia K,Fiaschi A,Moretto G,Bertolasi L,Zarattini S,Smania N

更新日期：2005-06-14 00:00:00

abstract：OBJECTIVE:To identify the source of delayed visual evoked potential (VEP) latencies in the fellow eyes of patients with optic neuritis (ON) and determine whether these latencies stem from clinically silent demyelination or reflect an adaptive process for synchronization with the affected eyes. METHODS:The study sample...

journal_title：Neurology

authors： Raz N,Chokron S,Ben-Hur T,Levin N

更新日期：2013-08-20 00:00:00

abstract：BACKGROUND:Extrapyramidal signs (EPS) are common in Alzheimer disease (AD) and increase in prevalence as AD advances. The neuropathologic substrate responsible for EPS in AD remains to be fully characterized. METHODS:Subjects had a clinical diagnosis of AD confirmed by neuropathologic examination. EPS during life were...

journal_title：Neurology

authors： Burns JM,Galvin JE,Roe CM,Morris JC,McKeel DW

更新日期：2005-04-26 00:00:00

abstract：OBJECTIVE:To better understand the epileptogenesis of symptomatic generalized epilepsy in patients with hypothalamic hamartoma and intractable epilepsy, many of whom experience remission of generalized seizures and slow spike-wave discharges following surgery. METHODS:The authors documented the evolution of symptomati...

journal_title：Neurology

authors： Freeman JL,Harvey AS,Rosenfeld JV,Wrennall JA,Bailey CA,Berkovic SF

更新日期：2003-03-11 00:00:00

abstract：OBJECTIVE:The current literature provides discrepant results regarding preoperative sociodemographic and clinical factors, and no information about preoperative cerebral metabolic patterns associated with apathy after subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson disease. METHODS:To resolve this is...

journal_title：Neurology

authors： Robert GH,Le Jeune F,Lozachmeur C,Drapier S,Dondaine T,Péron J,Houvenaghel JF,Travers D,Sauleau P,Millet B,Vérin M,Drapier D

更新日期：2014-10-28 00:00:00

abstract：:Despite recent advances in the molecular genetics of Alzheimer's disease (AD), several fundamental questions concerning risk of illness are unresolved, namely, if Mendelian factors account for the incidence of the disease, and if AD is an inevitable consequence of the aging process. This study was designed to address ...

journal_title：Neurology

authors： Lautenschlager NT,Cupples LA,Rao VS,Auerbach SA,Becker R,Burke J,Chui H,Duara R,Foley EJ,Glatt SL,Green RC,Jones R,Karlinsky H,Kukull WA,Kurz A,Larson EB,Martelli K,Sadovnick AD,Volicer L,Waring SC,Growdon JH,Fa

更新日期：1996-03-01 00:00:00